Canonical Allele Identifier: CA9043666
Gene: GAMT HGNC NCBI

Linked Data

ClinVar Variation Id: 328347
ClinVar RCV Id: RCV000353046 RCV001726120 RCV001850747
dbSNP Id: rs747656257
ExAC: 19:1399167 G / A
gnomAD v2: 19-1399167-G-A
gnomAD v3: 19-1399168-G-A
gnomAD v4: 19-1399168-G-A
MyVariant Identifiers: chr19:g.1399167G>A (hg19) chr19:g.1399168G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1399168G>A , CM000681.2:g.1399168G>A GRCh38
NC_000019.9:g.1399167G>A , CM000681.1:g.1399167G>A GRCh37
NC_000019.8:g.1350167G>A NCBI36
NG_009785.1:g.7386C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.419C>T MANE Select ENSP00000252288.1:p.Ser140Leu
ENST00000447102.8:c.419C>T ENSP00000403536.2:p.Ser140Leu
ENST00000591788.3:c.102C>T
ENST00000640164.1:n.252C>T
ENST00000640762.1:c.350C>T ENSP00000492031.1:p.Ser117Leu
ENST00000252288.6:c.419C>T ENSP00000252288.1:p.Ser140Leu
ENST00000447102.7:c.419C>T ENSP00000403536.2:p.Ser140Leu
ENST00000591788.2:c.104C>T ENSP00000466341.2:p.Ser35Leu
NM_000156.5:c.419C>T NP_000147.1:p.Ser140Leu
NM_138924.2:c.419C>T NP_620279.1:p.Ser140Leu
NM_000156.6:c.419C>T MANE Select NP_000147.1:p.Ser140Leu
NM_138924.3:c.419C>T NP_620279.1:p.Ser140Leu
Search 100 bp 5'
Search 100 bp 3'